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Evolutionary dissection of mtDNA hgH - a susceptibility factor for hypertrophic cardiomyopathy

Lookup NU author(s): Dr Joanna Elson



This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).


Mitochondrial DNA (mtDNA) Haplogroup (hg) H has been reported as a susceptibility factor for hypertrophic cardiomyopathy (HCM). This was established in genetic association studies, however, the SNP or SNP’s that are associated with the increased risk have not been identified. Hg H is the most frequent European mtDNA hg with at greater than 80 subhaplogroups (subhgs) each defined by specific SNPs. We tested the hypothesis that the distribution of H subhgs might differ between HCM patients and controls. The subhg H distribution in 55 HCM index cases was compared to that of two Danish mtDNA hg H control groups (n = 170 and n = 908, respectively). In the HCM group, H and 12 different H subhgs were found. All these, except subhgs H73, were also found in both control groups. The HCM group was also characterised by a higher proportion of H3 compared to H2. In the HCM group the H3/H2 proportion was 1.7, whereas it was 0.45 and 0.54 in the control groups. This tendency was replicated in an independent group of Hg H HCM index cases (n = 39) from Queensland, Australia, where the H3/H2 ratio was 1.5. In conclusion, the H subhgs distribution differs between HCM cases and controls, but the difference is subtle, and the understanding of the pathogenic significance is hampered by the lack of functional studies on the subhgs of H.

Publication metadata

Author(s): Hagen CM, Elson JL, Aidt HF, Havndrup O, Jensen MK, Kanters JK, Atherton JJ, McGaughran J, Bundgaard J, Christiansen M

Publication type: Article

Publication status: Published

Journal: Mitochondrial DNA Part A

Year: 2020

Volume: 31

Issue: 6

Pages: 238-244

Online publication date: 30/06/2020

Acceptance date: 05/06/2020

Date deposited: 25/06/2020

ISSN (print): 2470-1394

ISSN (electronic): 2470-1408

Publisher: Taylor & Francis


DOI: 10.1080/24701394.2020.1782897


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